"Ambry Genetics"[submitter] AND "GCC2"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2409962	NM_181453.4(GCC2):c.128A>G (p.Lys43Arg)	GCC2 (K43R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612025	NM_181453.4(GCC2):c.227A>G (p.Glu76Gly)	GCC2 (E76G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375081	NM_181453.4(GCC2):c.236A>G (p.Asp79Gly)	GCC2 (D79G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247183	NM_181453.4(GCC2):c.242T>C (p.Leu81Pro)	GCC2 (L81P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536630	NM_181453.4(GCC2):c.306G>T (p.Met102Ile)	GCC2 (M102I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477763	NM_181453.4(GCC2):c.343G>A (p.Asp115Asn)	GCC2 (D115N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276429	NM_181453.4(GCC2):c.385A>G (p.Lys129Glu)	GCC2 (K28E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382735	NM_181453.4(GCC2):c.740T>C (p.Ile247Thr)	GCC2 (I146T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2618966	NM_181453.4(GCC2):c.976G>T (p.Val326Leu)	GCC2 (V225L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401184	NM_181453.4(GCC2):c.995A>G (p.Glu332Gly)	GCC2 (E332G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394560	NM_181453.4(GCC2):c.1067C>T (p.Thr356Ile)	GCC2 (T255I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459624	NM_181453.4(GCC2):c.1241A>G (p.Gln414Arg)	GCC2 (Q414R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347384	NM_181453.4(GCC2):c.1370T>C (p.Phe457Ser)	GCC2 (F356S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372556	NM_181453.4(GCC2):c.1399G>C (p.Glu467Gln)	GCC2 (E467Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455758	NM_181453.4(GCC2):c.1429A>G (p.Ile477Val)	GCC2 (I376V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615362	NM_181453.4(GCC2):c.1516G>A (p.Glu506Lys)	GCC2 (E405K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286020	NM_181453.4(GCC2):c.1537G>C (p.Ala513Pro)	GCC2 (A412P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360400	NM_181453.4(GCC2):c.1616G>A (p.Arg539His)	GCC2 (R438H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2604451	NM_181453.4(GCC2):c.1681A>G (p.Ile561Val)	GCC2 (I460V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411417	NM_181453.4(GCC2):c.1705G>A (p.Gly569Arg)	GCC2 (G468R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397871	NM_181453.4(GCC2):c.1829T>C (p.Met610Thr)	GCC2 (M509T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407860	NM_181453.4(GCC2):c.2011G>A (p.Val671Ile)	GCC2 (V570I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230563	NM_181453.4(GCC2):c.2024T>G (p.Val675Gly)	GCC2 (V675G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533542	NM_181453.4(GCC2):c.2084A>G (p.Asn695Ser)	GCC2 (N594S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2523595	NM_181453.4(GCC2):c.2128G>T (p.Val710Phe)	GCC2 (V710F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609020	NM_181453.4(GCC2):c.2192T>C (p.Leu731Pro)	GCC2 (L731P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544759	NM_181453.4(GCC2):c.2297T>C (p.Met766Thr)	GCC2 (M665T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271955	NM_181453.4(GCC2):c.2298G>A (p.Met766Ile)	GCC2 (M766I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533633	NM_181453.4(GCC2):c.2312C>T (p.Ser771Leu)	GCC2 (S670L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363771	NM_181453.4(GCC2):c.2410C>T (p.Arg804Cys)	GCC2 (R804C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2405735	NM_181453.4(GCC2):c.2446A>G (p.Lys816Glu)	GCC2 (K715E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258465	NM_181453.4(GCC2):c.2450G>A (p.Cys817Tyr)	GCC2 (C716Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333510	NM_181453.4(GCC2):c.2480A>T (p.Glu827Val)	GCC2 (E827V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374292	NM_181453.4(GCC2):c.2546A>G (p.Glu849Gly)	GCC2 (E748G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411846	NM_181453.4(GCC2):c.2750A>C (p.Glu917Ala)	GCC2 (E917A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301842	NM_181453.4(GCC2):c.2794T>A (p.Leu932Ile)	GCC2 (L932I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287838	NM_181453.4(GCC2):c.2794T>G (p.Leu932Val)	GCC2 (L932V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547936	NM_181453.4(GCC2):c.2861A>G (p.Glu954Gly)	GCC2 (E853G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2556603	NM_181453.4(GCC2):c.2948C>G (p.Ser983Cys)	GCC2 (S882C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244449	NM_181453.4(GCC2):c.3011A>G (p.Gln1004Arg)	GCC2 (Q903R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474148	NM_181453.4(GCC2):c.3012G>C (p.Gln1004His)	GCC2 (Q1004H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524904	NM_181453.4(GCC2):c.3115C>T (p.Arg1039Cys)	GCC2 (R938C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592882	NM_181453.4(GCC2):c.3119C>T (p.Ala1040Val)	GCC2 (A939V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387881	NM_181453.4(GCC2):c.3130G>A (p.Glu1044Lys)	GCC2 (E1044K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399692	NM_181453.4(GCC2):c.3412C>T (p.Leu1138Phe)	GCC2 (L1037F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236791	NM_181453.4(GCC2):c.3656C>G (p.Thr1219Ser)	GCC2 (T1118S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465406	NM_181453.4(GCC2):c.3798G>C (p.Gln1266His)	GCC2 (Q1266H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405043	NM_181453.4(GCC2):c.3937C>A (p.Gln1313Lys)	GCC2 (Q1212K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552089	NM_181453.4(GCC2):c.3979G>A (p.Val1327Ile)	GCC2 (V1226I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210574	NM_181453.4(GCC2):c.4033G>C (p.Glu1345Gln)	GCC2 (E1244Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483920	NM_181453.4(GCC2):c.4121T>C (p.Ile1374Thr)	GCC2 (I1374T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320428	NM_181453.4(GCC2):c.4155A>C (p.Glu1385Asp)	GCC2 (E1284D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381078	NM_181453.4(GCC2):c.4182C>G (p.Asn1394Lys)	GCC2 (N1293K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282559	NM_181453.4(GCC2):c.4205C>A (p.Ser1402Tyr)	GCC2 (S1402Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282168	NM_181453.4(GCC2):c.4240A>G (p.Ile1414Val)	GCC2 (I1414V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2547114	NM_181453.4(GCC2):c.4255A>G (p.Met1419Val)	GCC2 (M1419V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510377	NM_181453.4(GCC2):c.4277C>T (p.Thr1426Ile)	GCC2 (T1325I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365110	NM_181453.4(GCC2):c.4592C>A (p.Thr1531Lys)	GCC2 (T1430K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256978	NM_181453.4(GCC2):c.4762A>G (p.Ile1588Val)	GCC2 (I1588V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398279	NM_181453.4(GCC2):c.4779T>G (p.Ile1593Met)	GCC2 (I1593M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251712	NM_181453.4(GCC2):c.4790A>G (p.Lys1597Arg)	GCC2 (K1496R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2301728	NM_181453.4(GCC2):c.4810G>C (p.Glu1604Gln)	GCC2 (E1503Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568794	NM_181453.4(GCC2):c.4828G>A (p.Glu1610Lys)	GCC2 (E1610K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546550	NM_181453.4(GCC2):c.5012C>T (p.Ser1671Phe)	GCC2, GCC2-AS1 (S1671F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 64